Canonical Allele Identifier: CA10457592
Community Standard Title: NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77599440T>C , CM000685.2:g.77599440T>C GRCh38
NC_000023.10:g.76854909T>C , CM000685.1:g.76854909T>C GRCh37
NC_000023.9:g.76741565T>C NCBI36
NG_008838.2:g.191782A>G
NG_008838.3:g.191830A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.5927A>G MANE Select NP_000480.3:p.Asn1976Ser
ENST00000373344.11:c.5927A>G MANE Select ENSP00000362441.4:p.Asn1976Ser
NM_000489.4:c.5927A>G NP_000480.3:p.Asn1976Ser
NM_000489.5:c.5927A>G NP_000480.3:p.Asn1976Ser
NM_138270.3:c.5813A>G NP_612114.2:p.Asn1938Ser
NM_138270.4:c.5813A>G NP_612114.2:p.Asn1938Ser
NM_138270.5:c.5813A>G NP_612114.2:p.Asn1938Ser
ENST00000373344.9:c.5927A>G ENSP00000362441.4:p.Asn1976Ser
ENST00000395603.7:c.5813A>G ENSP00000378967.3:p.Asn1938Ser
ENST00000480283.5:c.*5555A>G ENSP00000480196.1:n.*5555A>G
ENST00000623316.1:c.337A>G
ENST00000675732.1:c.1025A>G ENSP00000502598.1:p.Asn342Ser
XM_005262153.3:c.5924A>G XP_005262210.2:p.Asn1975Ser
XM_005262153.5:c.5924A>G XP_005262210.2:p.Asn1975Ser
XM_005262154.3:c.5840A>G XP_005262211.2:p.Asn1947Ser
XM_005262154.5:c.5840A>G XP_005262211.2:p.Asn1947Ser
XM_005262155.3:c.5810A>G XP_005262212.2:p.Asn1937Ser
XM_005262155.4:c.5810A>G XP_005262212.2:p.Asn1937Ser
XM_005262156.3:c.5762A>G XP_005262213.2:p.Asn1921Ser
XM_005262156.4:c.5762A>G XP_005262213.2:p.Asn1921Ser
XM_005262157.3:c.5723A>G XP_005262214.2:p.Asn1908Ser
XM_005262157.5:c.5723A>G XP_005262214.2:p.Asn1908Ser
XM_006724666.2:c.5810A>G XP_006724729.1:p.Asn1937Ser
XM_006724666.4:c.5810A>G XP_006724729.1:p.Asn1937Ser
XM_006724667.2:c.5648A>G XP_006724730.1:p.Asn1883Ser
XM_006724667.3:c.5648A>G XP_006724730.1:p.Asn1883Ser
XM_017029601.2:c.5837A>G XP_016885090.1:p.Asn1946Ser
XM_017029602.1:c.5807A>G XP_016885091.1:p.Asn1936Ser
XM_017029603.1:c.5759A>G XP_016885092.1:p.Asn1920Ser
XM_017029604.2:c.5726A>G XP_016885093.1:p.Asn1909Ser
XM_017029605.1:c.5723A>G XP_016885094.1:p.Asn1908Ser
XM_017029606.2:c.5696A>G XP_016885095.1:p.Asn1899Ser
XM_017029607.2:c.5693A>G XP_016885096.1:p.Asn1898Ser
XM_017029608.2:c.5645A>G XP_016885097.1:p.Asn1882Ser
XM_017029609.1:c.5609A>G XP_016885098.1:p.Asn1870Ser
XM_017029610.1:c.5606A>G XP_016885099.1:p.Asn1869Ser
XM_017029611.1:c.5561A>G XP_016885100.1:p.Asn1854Ser
XR_001755700.2:n.6152A>G
XR_938400.1:n.6195A>G